Clinical Utility and Interpretation of Genetic Testing Across Diverse Disorders FHCC 2026
Introduction
Advances in genomic technologies have significantly enhanced our ability to diagnose, predict, and manage a broad spectrum of diseases. As genetic testing becomes increasingly accessible across clinical specialties, the accurate interpretation and responsible application of genomic information have emerged as critical components of patient care. Ensuring that healthcare professionals are equipped to understand and utilize genetic test results is essential for the successful implementation of precision medicine.
This workshop on Clinical Utility and Interpretation of Genetic Testing Across Diverse Disorders will bring together experts from clinical genetics, genomics, laboratory medicine, and genetic counseling to discuss current practices, emerging challenges, and future directions in genomic healthcare. Through keynote lectures, panel discussions, and case-based learning, the program will provide participants with practical insights into the interpretation and clinical integration of genetic findings across a wide range of inherited and acquired disorders.
Learning Outcomes
By the end of this symposium, participants will be able to:
- Interpret and evaluate the clinical significance of genetic variants using established classification frameworks and evidence-based approaches.
- Correlate genetic test results with clinical phenotypes to support accurate diagnosis, prognosis, and patient management across a range of disorders.
- Assess the appropriate applications, benefits, and limitations of different genetic testing modalities in diverse clinical settings.
- Apply principles of genomic medicine to informed clinical decision-making, including test selection, result interpretation, and communication of findings to patients and healthcare teams.
Target Audience
- Undergraduate, graduate, and doctoral students in life sciences, biotechnology, microbiology, molecular biology, and related disciplines.
- Residents and trainees in pathology, hematology, oncology, pediatrics, and infectious diseases with an interest in genomics.
- Medical technologists and laboratory scientists working in molecular diagnostics.
- Researchers and faculty members seeking to update their genomics knowledge.
Tentative Schedule
| Topic | Speaker |
|---|---|
| Welcome & Opening Remarks |
Prof. Aisha Mohyuddin Dean Multidisciplinary Studies (NUMS) |
| How Genetic Testing Empowers Families and Improves Health Outcomes |
Dr. Salman Kirmani Professor, Paediatrics and Child Health (AKUH) |
| Functional Evaluation of Novel Genes and Variants of Unknown Significance |
Dr. Tahir Naeem Khan Associate Professor, Department of Molecular Biology and Genetics (NUMS) |
| Filling the Diagnostic Gaps: How Long-Read Sequencing and Advanced Genomic Solutions Enhance Clinical Diagnosis Beyond the Capabilities of Short-Read Technologies |
Jennifer Hsu Associate Director Sales (Pacific Bio Sciences) |
| Hands-On NGS Data Analysis: Read Mapping, BAM Processing, and Variant Calling Using Advanced Approaches |
Dr. Faisal Khan Assistant Professor, Department of Molecular Biology and Genetics (NUMS) |
| Discussion / Q&A | --- |
| Closing Session |
Discussion Certificate Distribution Group Photograph |
Expected Impact
The workshop is expected to enhance the knowledge and competencies of healthcare professionals in interpreting and clinically applying genetic testing across diverse disorders. Participants will gain greater confidence in integrating genomic findings into patient diagnosis, management, and counseling, leading to more informed clinical decision-making.
The event will also foster multidisciplinary collaboration among clinicians, laboratory specialists, genetic counselors, and researchers, promoting the effective translation of genomic advances into routine healthcare practice. Ultimately, these efforts will contribute to improved patient outcomes and support the broader implementation of precision medicine.
Facilitators
Prof. Aisha Mohyuddin
Dean, Multidisciplinary Studies
National University of Medical Sciences
Dr. Salman Kirmani
Professor, Paediatrics and Child Health
Aga Khan University Hospital
Dr. Tahir Naeem Khan
Associate Professor
Department of Molecular Biology and Genetics
National University of Medical Sciences
Jennifer Hsu
Associate Director Sales
Pacific Bio Sciences
Dr. Faisal Khan
Assistant Professor
Department of Molecular Biology and Genetics
National University of Medical Sciences
